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https://www.readbyqxmd.com/read/28345660/zinc-deficiency-and-low-enterocyte-zinc-transporter-expression-in-human-patients-with-autism-related-mutations-in-shank3
#1
Stefanie Pfaender, Ann Katrin Sauer, Simone Hagmeyer, Katharina Mangus, Leonhard Linta, Stefan Liebau, Juergen Bockmann, Guillaume Huguet, Thomas Bourgeron, Tobias M Boeckers, Andreas M Grabrucker
Phelan McDermid Syndrome (PMDS) is a genetic disorder characterized by features of Autism spectrum disorders. Similar to reports of Zn deficiency in autistic children, we have previously reported high incidence of Zn deficiency in PMDS. However, the underlying mechanisms are currently not well understood. Here, using inductively coupled plasma mass-spectrometry to measure the concentration of Zinc (Zn) and Copper (Cu) in hair samples from individuals with PMDS with 22q13.3 deletion including SHANK3 (SH3 and multiple ankyrin repeat domains 3), we report a high rate of abnormally low Zn/Cu ratios...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#2
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28342404/cognitive-behavioural-therapy-and-mindfulness-based-stress-reduction-may-be-equally-effective-in-reducing-anxiety-and-depression-in-adults-with-autism-spectrum-disorders
#3
Bram B Sizoo, Erik Kuiper
Anxiety and depression co-occur in 50-70% of adults with autism spectrum disorder (ASD) but treatment methods for these comorbid problems have not been systematically studied. Recently, two ASD-tailored protocols were published: mindfulness based stress reduction (MBSR) and cognitive behavioural therapy (CBT). We wanted to investigate if both methods are equally effective in reducing anxiety and depression symptoms among adults with ASD. 59 adults with ASD and anxiety or depression scores above 7 on the Hospital Anxiety and Depression Scale, gave informed consent to participate; 27 followed the CBT protocol, and 32 the MBSR treatment protocol...
March 22, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28341205/autism-like-behavior-in-the-btbr-mouse-model-of-autism-is-improved-by-propofol
#4
Yulong Cai, Lian Wang, Rui Xiao, Xin Li, Xie He, Junwei Gao, Haiwei Xu, Xiaotang Fan
Autism spectrum disorder (ASD) is a developmental disorder that is characterized by symptoms of impaired social interactions, restricted interests and repetitive behaviors. Recent studies in humans and animal-models suggest that reduced GABAergic neurotransmission in the brain may underlie autism-related behavioral symptoms. It has been shown that propofol, a commonly used anesthetic, facilitates γ-aminobutyric acid-mediated inhibitory synaptic transmission. The present study investigated whether propofol improved autistic phenotypes in BTBR T + Itpr3tf/J (BTBR) mice, a model of idiopathic autism...
March 21, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28339177/multisensory-speech-perception-in-autism-spectrum-disorder-from-phoneme-to-whole-word-perception
#5
Ryan A Stevenson, Sarah H Baum, Magali Segers, Susanne Ferber, Morgan D Barense, Mark T Wallace
Speech perception in noisy environments is boosted when a listener can see the speaker's mouth and integrate the auditory and visual speech information. Autistic children have a diminished capacity to integrate sensory information across modalities, which contributes to core symptoms of autism, such as impairments in social communication. We investigated the abilities of autistic and typically-developing (TD) children to integrate auditory and visual speech stimuli in various signal-to-noise ratios (SNR). Measurements of both whole-word and phoneme recognition were recorded...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28339164/are-schizophrenia-autistic-and-obsessive-spectrum-disorders-dissociable-on-the-basis-of-neuroimaging-morphological-findings-a-voxel-based-meta-analysis
#6
Franco Cauda, Tommaso Costa, Andrea Nani, Luciano Fava, Sara Palermo, Francesca Bianco, Sergio Duca, Karina Tatu, Roberto Keller
Schizophrenia spectrum disorder (SCZD), autism spectrum disorder (ASD), and obsessive-compulsive spectrum disorder (OCSD) are considered as three separate psychiatric conditions with, supposedly, different brain alterations patterns. From a neuroimaging perspective, this meta-analytic study aimed to address whether this nosographical differentiation is actually supported by different brain patterns of gray matter (GM) or white matter (WM) morphological alterations. We explored two possibilities: (a) to find out whether GM alterations are specific for SCZD, ASD, and OCSD; and (b) to associate the identified brain alteration patterns with cognitive dysfunctions by means of an analysis of lesion decoding...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28339141/don-t-touch-me-autistic-traits-modulate-early-and-late-erp-components-during-visual-perception-of-social-touch
#7
Leehe Peled-Avron, Simone G Shamay-Tsoory
Although individuals with autism spectrum disorder (ASD) have impaired responses to interpersonal touch, the underlying neural correlates remain largely unknown. Here, we examined the neural correlates that underlie interpersonal touch perception in individuals with either high or low autistic traits. Fifty-three participants were classified as having either high or low autistic traits based on their performance on the autism quotient (AQ) questionnaire. We hypothesized that individuals with high AQ scores would have relatively high touch hypervigilance, reflected as earlier P1 and stronger late positive potential (LPP) responses, two components of event-related potentials that serve as electrophysiological markers of anxiety bias...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28331571/clinical-evaluation-of-autistic-symptoms-in-women-with-anorexia-nervosa
#8
Heather Westwood, William Mandy, Kate Tchanturia
BACKGROUND: Despite a suggested link between anorexia nervosa (AN) and autism spectrum disorder (ASD), previous studies have used self-report or diagnostic criteria to assess for ASD in AN populations, rather than direct observation of symptom characteristic of ASD. The aim of this study was to use a standardised, clinical assessment of ASD, the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2), to investigate the presence of autistic symptoms in a cross-sectional sample of women with AN...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28330790/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders
#9
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis
BACKGROUND: Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS: We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). RESULTS: The diagnostic yield observed in patients in our cohort was 25...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28326463/relationship-between-selenium-lead-and-mercury-in-red-blood-cells-of-saudi-autistic-children
#10
Afaf El-Ansary, Geir Bjørklund, Alexey A Tinkov, Anatoly V Skalny, Hussain Al Dera
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause significant social, communication and behavioral challenges. Environmental contribution to ASD is due in large part to the sensitivity of the developing brain to external exposures such as lead (Pb), and mercury (Hg) as toxic heavy metals or due to a poor detoxification ability as the phenotype of this disorder. Selenium (Se) as an antioxidant element that counteracts the neurotoxicity of Hg, and Pb, presumably through the formation of nontoxic complexes...
March 21, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28319204/responses-to-others-pain-in-adults-with-autistic-traits-the-influence-of-gender-and-stimuli-modality
#11
Jing Meng, Zuoshan Li, Lin Shen
Individuals with autism-spectrum disorder (ASD) exhibit impairments in response to others' pain. Evidence suggests that features of autism are not restricted to individuals with ASD, and that autistic traits vary throughout the general population. To investigate the association between autistic traits and the responses to others' pain in typically developing adults, we employed the Autism-Spectrum Quotient (AQ) to quantify autistic traits in a group of 1670 healthy adults and explored whether 60 participants (30 males and 30 females) with 10% highest AQ scores (High-AQ) would exhibit difficulties in the responses to others' pain relative to 60 participants (30 males and 30 females) with 10% lowest AQ scores (Low-AQ)...
2017: PloS One
https://www.readbyqxmd.com/read/28316769/etiological-influences-on-the-stability-of-autistic-traits-from-childhood-to-early-adulthood-evidence-from-a-twin-study
#12
Mark J Taylor, Christopher Gillberg, Paul Lichtenstein, Sebastian Lundström
BACKGROUND: Autism spectrum disorders (ASD) are persistent and lifelong conditions. Despite this, almost all twin studies focus on childhood. This twin study investigated the stability of autistic traits from childhood to early adulthood and explored the degree to which any stability could be explained by genetic or environmental factors. METHODS: Parents of over 2500 twin pairs completed questionnaires assessing autistic traits when twins were aged either 9 or 12 years and again when twins were aged 18...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28303423/theory-of-mind-predominantly-associated-with-the-quality-not-quantity-of-pretend-play-in-children-with-autism-spectrum-disorder
#13
Shu-Kai Lin, Ching-Hong Tsai, Hsing-Jung Li, Chien-Yu Huang, Kuan-Lin Chen
This study aimed to clarify the relationships between theory of mind and pretend play in children with autism spectrum disorder, using refined assessments of theory of mind and pretend play while controlling for autistic behaviors and verbal comprehension. A total of 92 children with autism spectrum disorder aged 4-10 years were enrolled. In two visits, the children were assessed with the Theory of Mind Task Battery, the Child-Initiated Pretend Play Assessment, the Childhood Autism Rating Scale, and the Verbal Comprehension Index of the Wechsler Intelligence Scales, respectively, for their theory of mind, pretend play performance, autistic behaviors, and verbal comprehension...
March 16, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28299627/analysis-of-estrogen-receptor-%C3%AE-gene-methylation-in-autistic-males-in-a-chinese-han-population
#14
Xuelai Wang, Shuang Liang, Yi Sun, Haixin Li, Fumio Endo, Mitsuyoshi Nakao, Noriko Saitoh, Lijie Wu
Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development. A relationship between ESR2 and ASD has been suggested by studies on single nucleotide polymorphisms and mRNA and protein expression levels in ASD patients...
March 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28296209/the-urinary-1-h-nmr-metabolomics-profile-of-an-italian-autistic-children-population-and-their-unaffected-siblings
#15
Milena Lussu, Antonio Noto, Alice Masili, Andrea C Rinaldi, Angelica Dessì, Maria De Angelis, Andrea De Giacomo, Vassilios Fanos, Luigi Atzori, Ruggiero Francavilla
Autism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined. The purpose of this study was to evaluate the potential use of (1) H-NMR metabolomics to analyze the global biochemical signature of ASD patients (n = 21) and controls (n = 21), these being siblings of autistic patients...
March 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28292384/association-of-learning-and-memory-calcineurin-binding-protein-with-autism-spectrum-disorders
#16
Abdulrahman Mohammed Alhowikan, Laila Y. Al- ayadhi, Adel Q. Alkhedaide
OBJECTIVE: To determine the association of learning and memory calcineurin binding (CABIN1) protein with autism spectrum disorders. STUDY DESIGN: Cross-sectional comparative study. PLACE AND DURATION OF STUDY: The Autism Research and Treatment Center, King Khalid University Hospital, Riyadh, Saudi Arabia, from October 2013 to May 2014. METHODOLOGY: Serum levels of CABIN1 protein in 62 (64%) autistic male children were analysed and 35 (36%) age healthy children measured by using ELISA...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28291301/-acute-dystonia-due-to-aripiprazole-use-in-two-children-with-autism-spectrum-disorder-in-the-first-five-years-of-life
#17
Mustafa Küçükköse, Bürge Kabukçu Başay
Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#18
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28288805/humoral-immunity-and-autism-spectrum-disorders
#19
Keith Fluegge
Abnormal immune activation, particularly of a humoral nature, has consistently been described in the etiopathogenesis of autism spectrum disorders (ASD). In this journal, Mead and Ashwood (2015) reviewed immune abnormalities in autism and linked them to severity of classic autistic symptoms. However, there remains a lack of clarity as to how environmental risk factors in ASD may contribute to such immunophenotypes. The evidence presented herein highlights these immune deficits of a humoral nature in ASD. Moreover, aligned with prior research showing a link between chronic air pollution and suppression of humoral immunity, the author of this commentary has proposed that environmental exposure to pervasive air pollutants, particularly nitrous oxide (N2O), may target several anti-inflammatory biomarkers, including alpha 7 nicotinic acetylcholine receptor (α7nAChR) inhibition and stimulation of kappa opioid receptor (KOR) activity...
March 10, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#20
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
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